Rare Disease Library

Thin ribs-tubular bones-dysmorphism syndrome

Sharma-Kapoor-Ramji syndrome

DOORS syndrome

Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome · Autosomal recessive deafness-onychodystrophy syndrome

Kufor-Rakeb syndrome

PARK9

Leukocyte adhesion deficiency type II

CDG syndrome type IIc · CDG-IIc

Mixed connective tissue disease

MCTD · Sharp syndrome

Ramon syndrome

Cherubism-gingival fibromatosis-intellectual disability syndrome